What do you think about legends ??
Porphyria
Done by: Nora al-kahtani
Hend al-Subai
Sumaiah al-Ghamdi
Submitted to : T. Nouf al Sultan
Contents:
• Disease Description
• Vampires and werewolves
• Culture and history
• Notable cases
• Mechanism of Heme synthe...
Disease Description
• Porphyria is named from the ancient Greek
word porphura, meaning purple. The Greeks
borrowed the ter...
Disease Description:
• The porphyrias are a group of rare inherited or
acquired disorders of certain enzymes that normally...
Vampires and werewolves
• There are at least eight types of porphyria, which
vary substantially in their symptoms and seve...
Vampires and werewolves
• The Symptoms including loss of facial
features and fingers, scarring of the
cornea and blindness...
History : Notable cases
The mental illness exhibited by King George III
evidenced and no one diagnos it.1788
thirty-five y...
History :Notable cases
Porphyria in the Royal Houses of Stuart, Hanover and
Prussia".
were unconvinced. Many psychiatrists...
History :Notable cases
• Queen of Scots – King George III's great-
great-great-great-great-grandmother – also
suffered fro...
History :Notable cases
• Maria of Portugal or "Maria the Mad" due to
both her religious fervour and her acute
mental illne...
How
• What is the truth of prophyria ?
• How does it happen?
• When it happen?
• Why it is happen ?
• What the types of po...
Mechanism of Heme synthesis
Heme is a vital molecule for all of the body's organs,
although it is most abundant in the blo...
Mechanism of Heme synthesis
The first step in haem
synthesis is the combination of
succinyl CoA and glycine to
produce aminolevulinic acid
(ALA). This...
Mitochondrial δ -aminolevulinic
acid (ALA) is transported to
the cytoplasm, where ALA
dehydratase (also called
porphobilin...
• UPG III is converted to
coproporphyrinogen III (CPGIII) by
decarboxylation of the acetate side
chains under the influenc...
• CPGIII enters the mitochondria
where it converted to
protoporphyrinogen IX (PPG IX)
by an unknown mechanism. This
reacti...
PPG IX is further converted
within the mitochondria to
protoporphrin IX.
Mechanism of Heme synthesis
• It only remains for the central
ferrous ion to be inserted to
complete the synthesis of haem.
This reaction is catalyzed...
Mechanism of Heme synthesis
Mechanism of prophyria
In humans, porphyrins are the main precursors of
heme, an essential constituent of hemoglobin,
myog...
Mechanism of prophyria
Deficiency in the enzymes of the porphyrin pathway leads to insufficient
production of heme. Heme f...
Mechanism of prophyria
• The principal problem in these deficiencies is the
accumulation of porphyrins, the heme precursor...
Mechanism of prophyria
There are eight enzymes in the heme biosynthetic pathway, while the other
Defects in any of these c...
Type of Porphyria Deficient Enzyme
Main Location of
Porphyrin Buildup
delta-aminolevulinate-
dehydratase deficiency
porphy...
Symptoms of Porphyria
Porphyria is a group of disorders that can cause nerve or skin
problems.A porphyria that affects the...
Acute Porphyria
Acute porphyrias include forms of the
disease that typically cause nervous system
symptoms, which appear q...
Symptoms of Acute Porphyria
Possible s Possible signs and symptoms of
acute porphyria include:
• Severe abdominal pain
• S...
Symptoms of Acute Porphyria
• Red or brown urine
• Pain in extremities, back, chest,
neck, or head
• Loss or impairment of...
Cutaneous porphyrias
Cutaneous porphyrias include forms of the
disease thae skin symptoms as a result of
oversensitivity t...
Symptoms of Cutaneous porphyrias
• Possible signs and symptoms of
acute porphyria include:
• Sudden painful skin redness
(...
Symptoms of Cutaneous porphyrias
• Sensitivity to sunlight
• Fragile skin
• Changes in skin color
• Anemia
• Teeth discolo...
Diagnosis of Porphyria
• Blood, urine, and stool tests are performed
to diagnose porphyria. The best time to be
tested is ...
Treatment of Porphyria
Outbreaks of symptoms of acute porphyria
often require hospitalization. Patients may be
given medic...
Treatment of Porphyria
Treatment of porphyria cutanea tarda
includes:
• Regular blood removal (phlebotomies) to
reduce the...
treatment of porphyria cutanea tarda
with chloroquine
Twenty men and one woman with porphyria
cutanea tarda were treated w...
Reference
http://www.niddk.nih.gov/health-
information/health-topics/digestive-
diseases/porphyria/Pages/facts.aspx#commo...
Thank you
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Porphyria - the vampire disease

vampire disease
Published on: Mar 4, 2016
Published in: Science      
Source: www.slideshare.net


Transcripts - Porphyria - the vampire disease

  • 1. What do you think about legends ??
  • 2. Porphyria Done by: Nora al-kahtani Hend al-Subai Sumaiah al-Ghamdi Submitted to : T. Nouf al Sultan
  • 3. Contents: • Disease Description • Vampires and werewolves • Culture and history • Notable cases • Mechanism of Heme synthesis • Mechanism of prophyria • Prophyria types • Symptoms of Porphyria • Diagnosis of Porphyria • Treatment of Porphyria
  • 4. Disease Description • Porphyria is named from the ancient Greek word porphura, meaning purple. The Greeks borrowed the term from the Phoenicians, who extracted a purple pigment from purpura mollusks to dye the garments of their royal family. • a group of diseases that result from abnormal accumulations of red and purple pigments produced by the body, called porphyrins.
  • 5. Disease Description: • The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. • They manifest with either neurological complications or skin problems or occasionally both.
  • 6. Vampires and werewolves • There are at least eight types of porphyria, which vary substantially in their symptoms and severity. Historical victims of the worst, most disfiguring forms may have inspired tales of werewolves and vampires. • some symptoms is hair growth, especially on the face. , the hair growth can give the appearance of a werewolf, leading to speculations that the myths may have had a medical basis.
  • 7. Vampires and werewolves • The Symptoms including loss of facial features and fingers, scarring of the cornea and blindness. The condition may have been less rare in the past, especially in isolated area where inbreeding could occur perhaps giving rise to tales of vampires..
  • 8. History : Notable cases The mental illness exhibited by King George III evidenced and no one diagnos it.1788 thirty-five years after his death, concluded he suffered from acute mania. as a more likely diagnosis. 1855 suggested manic-depressive psychosis as a more likely diagnosis. 1941 The first suggestion that a physical illness was the cause of King George's mental derangements came in 1966, in a paper "The Insanity of King George III 1966
  • 9. History :Notable cases Porphyria in the Royal Houses of Stuart, Hanover and Prussia". were unconvinced. Many psychiatrists disagreed with these diagnosis, 1968 British film based upon the 1991 Alan Bennett play, The Madness of George III. 1994 was suggested that arsenic (which is known to be porphyrogenic ) given to George III with antimony may have caused his porphyria. 2005
  • 10. History :Notable cases • Queen of Scots – King George III's great- great-great-great-great-grandmother – also suffered from acute intermittent porphyria.
  • 11. History :Notable cases • Maria of Portugal or "Maria the Mad" due to both her religious fervour and her acute mental illness that made her incapable of handling state affairs after 1792, is also thought to have suffered from porphyria.
  • 12. How • What is the truth of prophyria ? • How does it happen? • When it happen? • Why it is happen ? • What the types of porphyria?
  • 13. Mechanism of Heme synthesis Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin.
  • 14. Mechanism of Heme synthesis
  • 15. The first step in haem synthesis is the combination of succinyl CoA and glycine to produce aminolevulinic acid (ALA). This reaction is energy dependent and so occurs in the mitochondria. Mechanism of Heme synthesis
  • 16. Mitochondrial δ -aminolevulinic acid (ALA) is transported to the cytoplasm, where ALA dehydratase (also called porphobilinogen synthase) dimerizes 2 molecules of ALA to produce the pyrrole ring compound porphobilinogen (PBG). Mechanism of Heme synthesis
  • 17. • UPG III is converted to coproporphyrinogen III (CPGIII) by decarboxylation of the acetate side chains under the influence of the enzyme uroporphyrinogen decarboxylase. Mechanism of Heme synthesis
  • 18. • CPGIII enters the mitochondria where it converted to protoporphyrinogen IX (PPG IX) by an unknown mechanism. This reaction is catalyzed by the enzyme coproporhyrinogen oxidase. Mechanism of Heme synthesis
  • 19. PPG IX is further converted within the mitochondria to protoporphrin IX. Mechanism of Heme synthesis
  • 20. • It only remains for the central ferrous ion to be inserted to complete the synthesis of haem. This reaction is catalyzed by the enzyme ferrochelatase and requires the presence of reducing agents. Mechanism of Heme synthesis
  • 21. Mechanism of Heme synthesis
  • 22. Mechanism of prophyria In humans, porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catalase, peroxidase. Heme synthesis—that some reactions occur in the cytoplasm and some in the mitochondrion
  • 23. Mechanism of prophyria Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. Heme function plays a central role in cellular metabolism. This is not the main problem in the porphyrias; most heme synthesis enzymes—even dysfunctional enzymes—have enough residual activity to assist in heme biosynthesis.
  • 24. Mechanism of prophyria • The principal problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations. The chemical properties of these intermediates determine the location of accumulation, whether they induce photosensitivity, and whether the intermediate is excreted (in the urine or feces)
  • 25. Mechanism of prophyria There are eight enzymes in the heme biosynthetic pathway, while the other Defects in any of these can lead to some form of porphyria. The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back and abdominal pain and an acute polyneuropathy), while the erythropoietic forms present with skin problems, usually a light-sensitive blistering rash and increased hair growth.
  • 26. Type of Porphyria Deficient Enzyme Main Location of Porphyrin Buildup delta-aminolevulinate- dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver acute intermittent porphyria porphobilinogen deaminase liver hereditary coproporphyria coproporphyrinogen oxidase liver variegate porphyria protoporphyrinogen oxidase liver congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow
  • 27. Symptoms of Porphyria Porphyria is a group of disorders that can cause nerve or skin problems.A porphyria that affects the skin is called cutaneous porphyria. A porphyria that affects the nervous system is called acute porphyria.The most common type of porphyria is porphyria cutanea tarda (PCT)
  • 28. Acute Porphyria Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be life-threatening. Acute porphyria attacks are rare before puberty and after menopause in women. Symptoms may last one to two weeks and usually improve slowly after the attack.
  • 29. Symptoms of Acute Porphyria Possible s Possible signs and symptoms of acute porphyria include: • Severe abdominal pain • Swelling of the abdomen • Constipation or diarrhea • Vomiting • Insomnia • Heartbeat you can feel (palpitations) • High blood pressure • Anxiety or restlessnessMuscle pain, tingling, numbness, weakness or paralysis
  • 30. Symptoms of Acute Porphyria • Red or brown urine • Pain in extremities, back, chest, neck, or head • Loss or impairment of movement • Respiratory paralysis • Behavioral changes, including agitation, confusion, hallucinations, and depression. • Convulsions, as a result of excessive vomiting and/or diarrhea • Increased heart rate
  • 31. Cutaneous porphyrias Cutaneous porphyrias include forms of the disease thae skin symptoms as a result of oversensitivity to sunlight, but these forms don't usually affect your nervous system. Attacks may last for several days. With some forms, signs and st causymptoms may start during infancy or childhood
  • 32. Symptoms of Cutaneous porphyrias • Possible signs and symptoms of acute porphyria include: • Sudden painful skin redness (erythema) and swelling (edema) • Blisters that take weeks to heal • Itching • Scars or skin color changes from healing blisters • Increased hair growth • Red or brown urine
  • 33. Symptoms of Cutaneous porphyrias • Sensitivity to sunlight • Fragile skin • Changes in skin color • Anemia • Teeth discoloration • Bone fragility or bone loss, due to Vitamin D deficiency
  • 34. Diagnosis of Porphyria • Blood, urine, and stool tests are performed to diagnose porphyria. The best time to be tested is during an outbreak of symptoms or around the time of them. • Sometimes multiple tests will be required before the diagnosis of a particular type of porphyria is possible. Because porphyria often runs in families, other family members can be tested and counseled after a positive diagnosis
  • 35. Treatment of Porphyria Outbreaks of symptoms of acute porphyria often require hospitalization. Patients may be given medicine for pain, nausea, and vomiting. They will also often receive glucose or hemin (Panhematin) injections . Panhematin is the only heme therapy approved for use in the U.S. Severe attacks of acute porphyria can cause lasting nerve damage and muscle weakness that can take months to resolve. Treatment of cutaneous porphyria depends on the specific type and the severity of the symptoms.
  • 36. Treatment of Porphyria Treatment of porphyria cutanea tarda includes: • Regular blood removal (phlebotomies) to reduce the amount of iron in the liver • Low doses of the antimalarial drug chloroquine or hydroxychloroquine • Avoidance of triggers • Treatment of any underlying condition such as HIV or hepatitis C
  • 37. treatment of porphyria cutanea tarda with chloroquine Twenty men and one woman with porphyria cutanea tarda were treated with oral chloroquine, 125 mg twice weekly.In nineteen of the patients chloroquine was taken for 8–5 months on average before complete clinical and biochemical remission occurred. Initially, treatment led to a considerable increase in urinary uroporphyrin and a mild increase in serum transaminases, but no adverse clinical reactions were observed. As the mechanism of chloroquine action in porphyria cutanea tarda has not yet been clarified, special caution must be observed when it is used therapeutically.
  • 38. Reference http://www.niddk.nih.gov/health- information/health-topics/digestive- diseases/porphyria/Pages/facts.aspx#common Prophyria : the unknown disease –Diana Deats-o’Reilly - marsh 2 , 1998 • http://www.webmd.com/a-to-z-guides/porphyria- symptoms-causes-treatment •http://www.patient.co.uk/health/porphyria
  • 39. Thank you

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